Varaico: Literature-Extracted Genetic Variants

Gene:BICRA
Variant:p.Q556*
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BICRA

NM_001394372.1:p.Q556*

Associated Papers

Beyond Neurodevelopmental Delay: BICRA-Related Coffin-Siris Syndrome 12 with Severe Intestinal Dysmotility and Recurrent Pneumothorax.

Wang H

Genes, 2026

A Novel Variant in the BICRA Gene, Expanding the Phenotype: A Case Report.

Kentros C et al.

Case Reports in Genetics, 2025

A de novo variant of BICRA results in Coffin-Siris syndrome 12.

Tu Y et al.

Molecular Genetics & Genomic Medicine, 2023

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."